NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 27, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002372065.2

Allele description [Variation Report for NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys)]

NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys)

Gene:
KCNJ2:potassium inwardly rectifying channel subfamily J member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q24.3
Genomic location:
Preferred name:
NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys)
Other names:
p.R325C:CGC>TGC
HGVS:
  • NC_000017.11:g.70176012C>T
  • NG_008798.1:g.11478C>T
  • NM_000891.3:c.973C>TMANE SELECT
  • NP_000882.1:p.Arg325Cys
  • NP_000882.1:p.Arg325Cys
  • LRG_328t1:c.973C>T
  • LRG_328:g.11478C>T
  • LRG_328p1:p.Arg325Cys
  • NC_000017.10:g.68172153C>T
  • NM_000891.2:c.973C>T
Protein change:
R325C
Links:
dbSNP: rs202067116
NCBI 1000 Genomes Browser:
rs202067116
Molecular consequence:
  • NM_000891.3:c.973C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002692753Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Sep 27, 2022) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.

Burns C, Ingles J, Davis AM, Connell V, Gray B, Hunt L, McGaughran J, Semsarian C.

J Arrhythm. 2016 Dec;32(6):456-461. Epub 2016 Mar 15.

PubMed [citation]
PMID:
27920829
PMCID:
PMC5129121

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Sahlin E, Gréen A, Gustavsson P, Liedén A, Nordenskjöld M, Papadogiannakis N, Pettersson K, Nilsson D, Jonasson J, Iwarsson E.

PLoS One. 2019;14(1):e0210017. doi: 10.1371/journal.pone.0210017.

PubMed [citation]
PMID:
30615648
PMCID:
PMC6322759
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV002692753.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024